FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-023-06790-0.pdf
Reference15 articles.
1. Paul A, Drecourt A, Petit F, Deguine DD et al (2017) FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases. Am J Hum Genet 101(4):630–637. https://doi.org/10.1016/j.ajhg.2017.09.007
2. Slone J, Peng Y, Chamberlin A, Harris B et al (2018) Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. J Hum Genet 63(12):1211–1222. https://doi.org/10.1038/s10038-018-0515-y
3. Slone JD, Yang L, Peng Y, Queme LF et al (2020) Integrated analysis of the molecular pathogenesis of FDXR-associated disease. Cell Death Dis 11(6):423. https://doi.org/10.1038/s41419-020-2637-3
4. Stenton SL, Piekutowska-Abramczuk D, Kulterer L, Kopajtich R et al (2021) Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance. Hum Mutat 42(3):310–319. https://doi.org/10.1002/humu.24160
5. Pezzani L, Marchetti D, Cereda A, Caffi LG et al (2018) Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy. Am J Med Genet A 176(12):2867–2871. https://doi.org/10.1002/ajmg.a.40635
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